Detalhe da pesquisa
1.
Insufficient Evidence for "Autism-Specific" Genes.
Am J Hum Genet
; 106(5): 587-595, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32359473
2.
Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome.
Genet Med
; 25(1): 151-154, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36609147
3.
Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism.
JAMA
; 329(3): 235-243, 2023 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36648468
4.
Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification.
Hum Mutat
; 43(8): 1031-1040, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34694049
5.
Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants.
Genet Med
; 24(3): 703-711, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906480
6.
Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population.
Genet Med
; 24(9): 1857-1866, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35639097
7.
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Genet Med
; 24(9): 1899-1908, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616647
8.
Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry.
Genet Med
; 23(9): 1738-1745, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34007001
9.
Loss of δ-catenin function in severe autism.
Nature
; 520(7545): 51-6, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25807484
10.
Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties.
Genet Med
; 22(4): 785-792, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31754268
11.
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Genet Med
; 22(2): 245-257, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31690835
12.
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Am J Hum Genet
; 99(3): 540-554, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27569545
13.
Development of a consent resource for genomic data sharing in the clinical setting.
Genet Med
; 21(1): 81-88, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29899502
14.
The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants.
Hum Mutat
; 39(11): 1660-1667, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311381
15.
ClinGen's GenomeConnect registry enables patient-centered data sharing.
Hum Mutat
; 39(11): 1668-1676, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311371
16.
Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group.
Hum Mutat
; 39(11): 1677-1685, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311382
17.
Detection of Chromosomal Aberrations in Clinical Practice: From Karyotype to Genome Sequence.
Annu Rev Genomics Hum Genet
; 16: 309-26, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077817
18.
ClinGen--the Clinical Genome Resource.
N Engl J Med
; 372(23): 2235-42, 2015 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26014595
19.
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 20(10): 1105-1113, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29915380
20.
ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(8): 100866, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37347242